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Abetalipoproteinemia is a rare, inherited disease characterized by the inability to fully absorb dietary fats through the gut. It results in fatty stools, diarrhea, failure to thrive in infancy, and problems with nerves. Abetalipoproteinemia is a genie disorder that affects both sexes, but predominantly males (70%). It is due to mutations in one of two genes: apolipoprotein B (APOB) or microsomal triglyceride transfer protein (MTP).

Because the body has problems with fats, there are also problems with the vitamins that stored in fats: vitamin A, vitamin E, and vitamin K.

Symptoms of Abetalipoproteinemia include

* Failure to thrive in infancy
* Fatty stools that appear pale in color
* Frothy stools
* Abnormally foul-smelling stools
* Protruding abdomen
* Developmental delay
* Poor muscle coordination that usually develops after age 10
* Muscle weakness
* Slurred speech
* Curvature of spine
* Progressive decreased vision
* Balance and coordination difficulties

Treatment of Abetalipoproteinemia

Large doses of vitamin supplements containing the fat-soluble vitamins (vitamin A, vitamin D, vitamin E and vitamin K) are given. To avoid intestinal symptoms, avoid eating long-chain triglycerides. Thus, the diet should contain no more than 5 ounces of lean meat, fish, or poultry per day. Use skim milk instead of whole milk. Since a certain amount of fat is needed for normal growth and development in all people, medium chain triglycerides are alternatively used as the major source of fat in the diet. These are absorbed from the gut differently than other fats, and thus avoid the intestinal symptoms. Medium chain triglycerides are taken as a dietary supplement, typically under the supervision of a physician or nutritionist.


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